Area of research
Cell Biology · Pathology and Forensic Medicine
Research interest
Research interests include Biology, Medicine, Genetics, Epidermodysplasia verruciformis, Immunology, and Transcriptome.
DNA methylation and machine learning: challenges and perspective toward enhanced clinical diagnostics
DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia
FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice
Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants
Whole-Transcriptome Sequencing–Based Profiling of the Cutaneous Virome in Patients with Secondary Immunodeficiency
Whole transcriptome–based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections
Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis
Whole-transcriptome sequencing–based concomitant detection of viral and human genetic determinants of cutaneous lesions
Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy
Skin Manifestations in COVID-19 Patients: Are They Indicators for Disease Severity? A Systematic Review
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
Inherited Interleukin 2–Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma
The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses
Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency
Next generation sequencing identifies double homozygous mutations in two distinct genes (<i>EXPH5</i> and <i>COL17A1</i>) in a patient with concomitant simplex and junctional epidermolysis bullosa
Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis
A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to <i>PNPLA1</i> mutation
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis